|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common causes of ISs were excluded by brain magnetic resonance imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications.
|
26138355 |
2016 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations.
|
27798109 |
2016 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infantile spasms.
|
26306640 |
2016 |
|
Infantile Spasm
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms).
|
24236044 |
2013 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polyalanine (polyA)-expansion-encoding mutations of aristaless-related homeobox (ARX) cause a spectrum of X-linked ID (XLID) diseases and chronic epilepsy, including infantile spasms.
|
23246292 |
2013 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation.
|
19232548 |
2009 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The same ARX gene mutation has been reported in patients with infantile spasms, but was absent in the present case.
|
18823727 |
2009 |
|
Infantile Spasm
|
0.100 |
Biomarker
|
disease |
BEFREE |
There are very few affected females with ARX related infantile spasms.
|
18462864 |
2008 |
|
Infantile Spasm
|
0.100 |
Biomarker
|
disease |
BEFREE |
ARX gene testing should be considered in boys with infantile spasms and dyskinetic cerebral palsy in the absence of a consistent perinatal history.
|
17664401 |
2007 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms.
|
16806828 |
2006 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm.
|
16235064 |
2006 |
|
Infantile Spasm
|
0.100 |
Biomarker
|
disease |
BEFREE |
The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation).
|
15689447 |
2005 |
|
Infantile Spasm
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation.
|
15533998 |
2004 |
|
Infantile Spasm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.
|
11889467 |
2002 |